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NM_001042492.3(NF1):c.6378C>T (p.Val2126=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 19, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000568805.1

Allele description [Variation Report for NM_001042492.3(NF1):c.6378C>T (p.Val2126=)]

NM_001042492.3(NF1):c.6378C>T (p.Val2126=)

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.6378C>T (p.Val2126=)
HGVS:
  • NC_000017.11:g.31336865C>T
  • NG_009018.1:g.246889C>T
  • NM_000267.3:c.6315C>T
  • NM_001042492.3:c.6378C>TMANE SELECT
  • NP_000258.1:p.Val2105=
  • NP_001035957.1:p.Val2126=
  • NP_001035957.1:p.Val2126=
  • LRG_214t1:c.6315C>T
  • LRG_214t2:c.6378C>T
  • LRG_214:g.246889C>T
  • LRG_214p1:p.Val2105=
  • LRG_214p2:p.Val2126=
  • NC_000017.10:g.29663883C>T
  • NM_001042492.2:c.6378C>T
  • NM_001042492.3:c.6378C>T
Links:
dbSNP: rs760941036
NCBI 1000 Genomes Browser:
rs760941036
Molecular consequence:
  • NM_000267.3:c.6315C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042492.3:c.6378C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000663099Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Likely benign
(Feb 19, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000663099.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Synonymous alterations with insufficient evidence to classify as benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 5, 2024